3-Methylglutaconic acid (BioDeep_00000415893)

   


代谢物信息卡片


3-Methylglutaconic acid

化学式: C6H8O4 (144.0422568)
中文名称: 3-甲基谷氨酸
谱图信息: 最多检出来源 () 0%

分子结构信息

SMILES: CC(=CC(=O)O)CC(=O)O
InChI: InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+

描述信息

3-Methylglutaconic acid is the major metabolites accumulating in 3-Methylglutaconic aciduria (MGTA). 3-Methylglutaconic acid can induce lipid oxidative damage and protein oxidative. 3-Methylglutaconic acid decreases the non-enzymatic antioxidant defenses in cerebral cortex supernatants to elicit oxidative stress in the cerebral cortex. 3-Methylglutaconic acid can be used for brain damage disease research[1].

同义名列表

2 个代谢物同义名

3-Methylglutaconic acid; β-Methylglutaconic acid



数据库引用编号

24 个数据库交叉引用编号

分类词条

相关代谢途径

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代谢反应

0 个相关的代谢反应过程信息。

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BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

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0 个相关的物种来源信息

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  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

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文献列表

  • Rebecca Young, Dylan E Jones, Lautaro Diacovich, Andrzej Witkowski, Robert O Ryan. trans-3-Methylglutaconyl CoA isomerization-dependent protein acylation. Biochemical and biophysical research communications. 2021 01; 534(?):261-265. doi: 10.1016/j.bbrc.2020.11.100. [PMID: 33280817]
  • Paweł Zapolnik, Jolanta Sykut-Cegielska, Antoni Pyrkosz. Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review. Acta biochimica Polonica. 2020 Jun; 67(2):263-266. doi: 10.18388/abp.2020_5355. [PMID: 32511901]
  • Nevton Teixeira da Rosa-Junior, Belisa Parmeggiani, Nícolas Manzke Glänzel, Leonardo de Moura Alvorcem, Marina Rocha Frusciante, Carlos Severo Dutra Filho, Moacir Wajner, Guilhian Leipnitz. In vivo evidence that bezafibrate prevents oxidative stress and mitochondrial dysfunction caused by 3-methylglutaric acid in rat liver. Biochimie. 2020 Apr; 171-172(?):187-196. doi: 10.1016/j.biochi.2020.03.007. [PMID: 32169667]
  • Anwar Baban, Rachele Adorisio, Bernadette Corica, Cristiano Rizzo, Federica Calì, Michela Semeraro, Roberta Taurisano, Monia Magliozzi, Rosalba Carrozzo, Francesco Parisi, Bruno Dallapiccola, Frédéric M Vaz, Fabrizio Drago, Carlo Dionisi-Vici. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. American journal of medical genetics. Part A. 2020 01; 182(1):64-70. doi: 10.1002/ajmg.a.61383. [PMID: 31729175]
  • Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall E Peeler. Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. Ophthalmic genetics. 2019 12; 40(6):570-573. doi: 10.1080/13816810.2019.1711428. [PMID: 31928268]
  • Michela Semeraro, Sara Boenzi, Rosalba Carrozzo, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Giacomo Antonetti, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Carlo Dionisi-Vici. The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders. Clinica chimica acta; international journal of clinical chemistry. 2018 Jun; 481(?):156-160. doi: 10.1016/j.cca.2018.03.002. [PMID: 29534959]
  • Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Maciej Pronicki, Roman Sikora, Rijad Haidar, Mariusz Ołtarzewski, Ewa Jabłońska, Premala Muthukumarasamy, Pavai Sthaneswar, Chin-Seng Gan, Małgorzata Krajewska-Walasek, Rosalba Carrozzo, Daniela Verrigni, Michela Semeraro, Cristiano Rizzo, Roberta Taurisano, Bader Alhaddad, Reka Kovacs-Nagy, Tobias B Haack, Carlo Dionisi-Vici, Ewa Pronicka, Saskia B Wortmann. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clinica chimica acta; international journal of clinical chemistry. 2017 Aug; 471(?):95-100. doi: 10.1016/j.cca.2017.05.023. [PMID: 28526534]
  • Nikita Ikon, Robert O Ryan. On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism. Journal of inherited metabolic disease. 2016 09; 39(5):749-756. doi: 10.1007/s10545-016-9933-1. [PMID: 27091556]
  • Nirit Carmi, Dorit Lev, Esther Leshinsky-Silver, Yair Anikster, Lubov Blumkin, Sara Kivity, Tally Lerman-Sagie, Ayelet Zerem. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2015 Nov; 19(6):733-6. doi: 10.1016/j.ejpn.2015.06.006. [PMID: 26190011]
  • M S da Rosa, B Seminotti, A U Amaral, B Parmeggiani, F H de Oliveira, G Leipnitz, M Wajner. Disruption of redox homeostasis and histopathological alterations caused by in vivo intrastriatal administration of D-2-hydroxyglutaric acid to young rats. Neuroscience. 2014 Sep; 277(?):281-93. doi: 10.1016/j.neuroscience.2014.07.011. [PMID: 25043325]
  • Betty Su, Robert O Ryan. Metabolic biology of 3-methylglutaconic acid-uria: a new perspective. Journal of inherited metabolic disease. 2014 May; 37(3):359-68. doi: 10.1007/s10545-013-9669-0. [PMID: 24407466]
  • Saskia B Wortmann, Marinus Duran, Yair Anikster, Peter G Barth, Wolfgang Sperl, Johannes Zschocke, Eva Morava, Ron A Wevers. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. Journal of inherited metabolic disease. 2013 Nov; 36(6):923-8. doi: 10.1007/s10545-012-9580-0. [PMID: 23296368]
  • Saskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S Alkuraya, Izelle Smuts, Carolus J Reinecke, Francois H van der Westhuizen, David Thorburn, Jan A M Smeitink, Eva Morava, Ron A Wevers. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of inherited metabolic disease. 2013 Nov; 36(6):913-21. doi: 10.1007/s10545-012-9579-6. [PMID: 23355087]
  • Francesca Santarelli, Michela Cassanello, Ausilia Enea, Francesca Poma, Valentina D'Onofrio, Giovanna Guala, Giangiacomo Garrone, Paola Puccinelli, Ubaldo Caruso, Francesco Porta, Marco Spada. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Italian journal of pediatrics. 2013 May; 39(?):33. doi: 10.1186/1824-7288-39-33. [PMID: 23705938]
  • Diti Ronvelia, Jaclyn Greenwood, Julia Platt, Simin Hakim, Michael V Zaragoza. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Molecular genetics and metabolism. 2012 Nov; 107(3):428-32. doi: 10.1016/j.ymgme.2012.09.013. [PMID: 23031367]
  • Jean-Baptiste Roullet, Louise S Merkens, Anuradha S Pappu, Megan D Jacobs, Rolf Winter, William E Connor, Robert D Steiner. No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. Journal of inherited metabolic disease. 2012 Sep; 35(5):859-69. doi: 10.1007/s10545-012-9453-6. [PMID: 22391996]
  • Mir Reza Bekheirnia, Wei Zhang, Tanya Eble, Alecia Willis, Aziz Shaibani, Lee-Jun C Wong, Fernando Scaglia, Shweta U Dhar. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May; 499(1):209-12. doi: 10.1016/j.gene.2012.02.034. [PMID: 22405928]
  • Saskia B Wortmann, Leo A Kluijtmans, Udo F H Engelke, Ron A Wevers, Eva Morava. The 3-methylglutaconic acidurias: what's new?. Journal of inherited metabolic disease. 2012 Jan; 35(1):13-22. doi: 10.1007/s10545-010-9210-7. [PMID: 20882351]
  • Agnieszka Karkucinska-Wieckowska, Magdalena Lebiedzinska, Elżbieta Jurkiewicz, Magdalena Pajdowska, Joanna Trubicka, Tamara Szymanska-Debinska, Jan Suski, Paolo Pinton, Jerzy Duszynski, Maciej Pronicki, Mariusz R Wieckowski, Ewa Pronicka. Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria). Folia neuropathologica. 2011; 49(1):56-63. doi: NULL. [PMID: 21455844]
  • Oleg A Shchelochkov, Fang-Yuan Li, Jing Wang, Hongli Zhan, Jeffrey A Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Molecular genetics and metabolism. 2010 Oct; 101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. [PMID: 20728387]
  • Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A Gahl, Yair Anikster. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Molecular genetics and metabolism. 2010 Jun; 100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. [PMID: 20350831]
  • Magdalena Lebiedzinska, Agnieszka Karkucinska-Wieckowska, Carlotta Giorgi, Elzbieta Karczmarewicz, Ewa Pronicka, Paolo Pinton, Jerzy Duszynski, Maciej Pronicki, Mariusz R Wieckowski. Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders. Biochimica et biophysica acta. 2010 Jun; 1797(6-7):952-60. doi: 10.1016/j.bbabio.2010.03.005. [PMID: 20226758]
  • Guilhian Leipnitz, Bianca Seminotti, Carolina G Fernandes, Alexandre U Amaral, Ana Paula Beskow, Lucila de B da Silva, Angela Zanatta, César A J Ribeiro, Carmen R Vargas, Moacir Wajner. Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2009 Jun; 27(4):351-6. doi: 10.1016/j.ijdevneu.2009.03.001. [PMID: 19460629]
  • Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, Maaike C de Vries, Marjan Huizing, Katrin Heldt, Lambert P van den Heuvel, Udo Wendel, Leo A Kluijtmans, Udo F Engelke, Ron A Wevers, Jan A M Smeitink, Eva Morava. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain : a journal of neurology. 2009 Jan; 132(Pt 1):136-46. doi: 10.1093/brain/awn296. [PMID: 19015156]
  • G Ho, J H Walter, J Christodoulou. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. Journal of inherited metabolic disease. 2008 Dec; 31 Suppl 2(?):S419-23. doi: 10.1007/s10545-008-0981-z. [PMID: 18985435]
  • Guilhian Leipnitz, Bianca Seminotti, Alexandre U Amaral, Giorgia de Bortoli, Alexandre Solano, Patrícia F Schuck, Angela T S Wyse, Clóvis M D Wannmacher, Alexandra Latini, Moacir Wajner. Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. Life sciences. 2008 Mar; 82(11-12):652-62. doi: 10.1016/j.lfs.2007.12.024. [PMID: 18261750]
  • Vanessa J Davies, Kate A Powell, Kathryn E White, Wanfen Yip, Vanessa Hogan, Andrew J Hollins, Jennifer R Davies, Malgorzata Piechota, David G Brownstein, Stuart J Moat, Philip P Nichols, Michael A Wride, Michael E Boulton, Marcela Votruba. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain : a journal of neurology. 2008 Feb; 131(Pt 2):368-80. doi: 10.1093/brain/awm333. [PMID: 18222992]
  • Michèle M M Mazzocco, Anne E Henry, Richard I Kelly. Barth syndrome is associated with a cognitive phenotype. Journal of developmental and behavioral pediatrics : JDBP. 2007 Feb; 28(1):22-30. doi: 10.1097/01.dbp.0000257519.79803.90. [PMID: 17353728]
  • Nuria Muñoz Jareño, Daniel Martín Fernández-Mayoralas, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Magdalena Ugarte Pérez, Jaime Campos-Castelló. 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. Journal of child neurology. 2007 Feb; 22(2):218-21. doi: 10.1177/0883073807300300. [PMID: 17621487]
  • M Eriguchi, H Mizuta, K Kurohara, M Kosugi, Y Yakushiji, R Okada, M Yukitake, Y Hasegawa, S Yamaguchi, Y Kuroda. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. Neurology. 2006 Nov; 67(10):1895-6. doi: 10.1212/01.wnl.0000244467.01362.54. [PMID: 17130438]
  • Gabriella Di Rosa, Federica Deodato, Ference J Loupatty, Cristiano Rizzo, Rosalba Carrozzo, Filippo M Santorelli, Sara Boenzi, Adele D'Amico, Giulia Tozzi, Enrico Bertini, Andrea Maiorana, Ronald J A Wanders, Carlo Dionisi-Vici. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. Journal of inherited metabolic disease. 2006 Aug; 29(4):546-50. doi: 10.1007/s10545-006-0279-y. [PMID: 16736096]
  • S Wortmann, R J T Rodenburg, M Huizing, F J Loupatty, T de Koning, L A J Kluijtmans, U Engelke, R Wevers, J A M Smeitink, E Morava. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Molecular genetics and metabolism. 2006 May; 88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. [PMID: 16527507]
  • Udo F H Engelke, Berry Kremer, Leo A J Kluijtmans, Marinette van der Graaf, Eva Morava, Ference J Loupatty, Ronald J A Wanders, Detlef Moskau, Sandra Loss, Erik van den Bergh, Ron A Wevers. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR in biomedicine. 2006 Apr; 19(2):271-8. doi: 10.1002/nbm.1018. [PMID: 16541463]
  • Pamela Arn, Vicky L Funanage. 3-methylglutaconic aciduria disorders: the clinical spectrum increases. Journal of pediatric hematology/oncology. 2006 Feb; 28(2):62-3. doi: 10.1097/01.mph.0000199602.35010.89. [PMID: 16462574]
  • Motti Haimi, Ronit Elhasid, Ruth Gershoni-Baruch, Shai Izraeli, Ronald J A Wanders, Hanna Mandel. Myeloid dysplasia in familial 3-methylglutaconic aciduria. Journal of pediatric hematology/oncology. 2006 Feb; 28(2):69-72. doi: 10.1097/01.mph.0000199585.98926.55. [PMID: 16462576]
  • Mika Matsumori, Yutaka Shoji, Tsutomu Takahashi, Yasuko Shoji, Goro Takada. A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. Pediatrics international : official journal of the Japan Pediatric Society. 2005 Dec; 47(6):684-6. doi: 10.1111/j.1442-200x.2005.02130.x. [PMID: 16354225]
  • Meral Gunay-Aygun. 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Molecular genetics and metabolism. 2005 Jan; 84(1):1-3. doi: 10.1016/j.ymgme.2004.12.003. [PMID: 15719488]
  • Sabine Illsinger, Thomas Lücke, Johannes Zschocke, Kenneth M Gibson, Anibh M Das. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatric neurology. 2004 Mar; 30(3):213-5. doi: 10.1016/j.pediatrneurol.2003.09.016. [PMID: 15033206]
  • Michael Schlame, Richard I Kelley, Annette Feigenbaum, Jeffrey A Towbin, Paul M Heerdt, Thomas Schieble, Ronald J A Wanders, Salvatore DiMauro, Thomas J J Blanck. Phospholipid abnormalities in children with Barth syndrome. Journal of the American College of Cardiology. 2003 Dec; 42(11):1994-9. doi: 10.1016/j.jacc.2003.06.015. [PMID: 14662265]
  • Simone Rugolotto, Maria D Prioli, Daniela Toniolo, PierAntonio Pellegrino, Susanna Catuogno, Alberto B Burlina. Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. Molecular genetics and metabolism. 2003 Dec; 80(4):408-11. doi: 10.1016/j.ymgme.2003.07.002. [PMID: 14654353]
  • Guido F Laube, James V Leonard, William G van't Hoff. Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. Pediatric nephrology (Berlin, Germany). 2003 Jul; 18(7):712-3. doi: 10.1007/s00467-003-1151-z. [PMID: 12750979]
  • T B Nga Ly, Verena Peters, K Michael Gibson, Michael Liesert, Wolfgang Buckel, Bridget Wilcken, Kevin Carpenter, Regina Ensenauer, Georg F Hoffmann, Matthias Mack, Johannes Zschocke. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Human mutation. 2003 Apr; 21(4):401-7. doi: 10.1002/humu.10202. [PMID: 12655555]
  • Fernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, Dawna L Armstrong, Lawrence Sweetman, Lee-Jun C Wong. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC pediatrics. 2002 Dec; 2(?):12. doi: 10.1186/1471-2431-2-12. [PMID: 12507404]
  • Robert Kleta, Flemming Skovby, Ernst Christensen, Thomas Rosenberg, William A Gahl, Yair Anikster. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Molecular genetics and metabolism. 2002 Jul; 76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. [PMID: 12126933]
  • Y Anikster, R Kleta, A Shaag, W A Gahl, O Elpeleg. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. American journal of human genetics. 2001 Dec; 69(6):1218-24. doi: 10.1086/324651. [PMID: 11668429]
  • M M Mazzocco, R I Kelley. Preliminary evidence for a cognitive phenotype in Barth syndrome. American journal of medical genetics. 2001 Sep; 102(4):372-8. doi: 10.1002/ajmg.1487. [PMID: 11503166]
  • F Scaglia, V R Sutton, O A Bodamer, H Vogel, S K Shapira, R K Naviaux, G D Vladutiu. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. Journal of child neurology. 2001 Feb; 16(2):136-8. doi: 10.1177/088307380101600214. [PMID: 11292221]
  • C Pantaleoni, S D'Arrigo, L D'Incerti, M Rimoldi, D Riva. A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. Pediatric neurology. 2000 Nov; 23(5):442-4. doi: 10.1016/s0887-8994(00)00217-4. [PMID: 11118804]
  • R Ensenauer, C B Müller, K O Schwab, K M Gibson, M Brandis, W Lehnert. 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. Journal of inherited metabolic disease. 2000 Jun; 23(4):341-4. doi: 10.1023/a:1005670911799. [PMID: 10896289]
  • A Arbelaez, M Castillo, J Stone. MRI in 3-methylglutaconic aciduria type 1. Neuroradiology. 1999 Dec; 41(12):941-2. doi: 10.1007/s002340050871. [PMID: 10639672]
  • M Michelson, S Harel, A Gutman, T Lerman-Sagie. Urinary organic acid screening in children with developmental language delay. Journal of inherited metabolic disease. 1999 Oct; 22(7):815-20. doi: 10.1023/a:1005558108125. [PMID: 10518282]
  • P G Barth, R J Wanders, P Vreken. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. The Journal of pediatrics. 1999 Sep; 135(3):273-6. doi: 10.1016/s0022-3476(99)70118-6. [PMID: 10484787]
  • A M Cantlay, K Shokrollahi, J T Allen, P W Lunt, R A Newbury-Ecob, C G Steward. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. The Journal of pediatrics. 1999 Sep; 135(3):311-5. doi: 10.1016/s0022-3476(99)70126-5. [PMID: 10484795]
  • M Di Rocco, U Caruso, I Moroni, S Lupino, E Lamantea, A R Fantasia, C Borrone, K M Gibson. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. Journal of inherited metabolic disease. 1999 Jun; 22(5):593-8. doi: 10.1023/a:1005565610613. [PMID: 10399091]
  • R Walsh, H Conway, G Roche, P D Mayne. What is the origin of 3-methylglutaconic acid?. Journal of inherited metabolic disease. 1999 May; 22(3):251-5. doi: 10.1023/a:1005573819137. [PMID: 10384380]
  • Y Shoji, T Takahashi, Y Sawaishi, A Ishida, M Matsumori, Y Shoji, M Enoki, H Watanabe, G Takada. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. Journal of inherited metabolic disease. 1999 Feb; 22(1):1-8. doi: 10.1023/a:1005421111554. [PMID: 10070612]
  • M Al-Essa, S Bakheet, L Al-Shamsan, Z Patay, J Powe, P T Ozand. 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. Brain & development. 1999 Jan; 21(1):24-9. doi: 10.1016/s0387-7604(98)00064-3. [PMID: 10082249]
  • K M Gibson, R S Wappner, S Jooste, E Erasmus, L J Mienie, E Gerlo, B Desprechins, L De Meirleir. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. Journal of inherited metabolic disease. 1998 Aug; 21(6):631-8. doi: 10.1023/a:1005476315892. [PMID: 9762598]
  • M H Holtmann, P R Galle, W Stremmel, E Mayatepek. 3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance. Journal of inherited metabolic disease. 1998 Aug; 21(6):683-5. doi: 10.1023/a:1005449004505. [PMID: 9762609]
  • H Costeff, N Apter, O N Elpeleg, M Prialnic, H J Böhles. Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3. Brain & development. 1998 Jan; 20(1):33-5. doi: 10.1016/s0387-7604(97)00096-x. [PMID: 9533558]
  • I Yoshida. [3-Methylglutaconyl-CoA hydratase deficiency]. Ryoikibetsu shokogun shirizu. 1998; ?(18 Pt 1):288-91. doi: NULL. [PMID: 9590049]
  • I Yoshida. [X-linked 3-methylglutaconic aciduria (normal hydratase)]. Ryoikibetsu shokogun shirizu. 1998; ?(18 Pt 1):292-4. doi: NULL. [PMID: 9590050]
  • I Yoshida. [Methylglutaconic aciduria (normal hydratase, unspecified)]. Ryoikibetsu shokogun shirizu. 1998; ?(18 Pt 1):295-8. doi: NULL. [PMID: 9590051]
  • A Kesler, N Gadoth, R Straussberg. 3-Methylglutaconic aciduria: a new metabolic disorder associated with early onset optic atrophy. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 1997 Dec; 17(4):278-9. doi: NULL. [PMID: 9427184]
  • E Broide, O Elpeleg, E Lahat. Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction. Pediatric neurology. 1997 Nov; 17(4):353-5. doi: 10.1016/s0887-8994(97)00096-9. [PMID: 9436802]
  • E H Cardonick, K Kuhlman, E Ganz, L T Pagotto. Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. Prenatal diagnosis. 1997 Oct; 17(10):983-8. doi: 10.1002/(sici)1097-0223(199710)17:10<983::aid-pd174>3.0.co;2-0. [PMID: 9358581]
  • A Nystuen, H Costeff, O N Elpeleg, N Apter, B Bonné-Tamir, H Mohrenweiser, N Haider, E M Stone, V C Sheffield. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Human molecular genetics. 1997 Apr; 6(4):563-9. doi: 10.1093/hmg/6.4.563. [PMID: 9097959]
  • R Walsh, H Conway, G Roche, E Naughten, P D Mayne. 3-Methylglutaconic aciduria in pregnancy. Lancet (London, England). 1997 Mar; 349(9054):776. doi: 10.1016/s0140-6736(05)60201-2. [PMID: 9074583]
  • T j de Koning, M Duran, L Dorland, R Berger, B T Poll-The. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring. Lancet (London, England). 1996 Sep; 348(9031):887-8. doi: 10.1016/s0140-6736(05)64755-1. [PMID: 8826820]
  • S Ruesch, S Krähenbühl, S Kleinle, S Liechti-Gallati, T Schaffner, B Wermuth, J Weber, U N Wiesmann. Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts. Enzyme & protein. 1996; 49(5-6):321-9. doi: 10.1159/000468642. [PMID: 9252790]
  • R I Kelley, L Kratz. 3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatric research. 1995 May; 37(5):671-4. doi: 10.1203/00006450-199505000-00020. [PMID: 7603789]
  • H Costeff, O N Elpeleg. 3-Methylglutaconic aciduria, type 3. Brain & development. 1995 May; 17(3):226. doi: 10.1016/0387-7604(95)00014-3. [PMID: 7573769]
  • A Fiumara, R Barone, F Nigro, A Ribes, L Pavone. Pancreatitis and organic acidemias. The Journal of pediatrics. 1995 May; 126(5 Pt 1):852. doi: 10.1016/s0022-3476(95)70444-2. [PMID: 7538575]
  • T Lerman-Sagie. Behr syndrome. Pediatric neurology. 1995 Jan; 12(1):90. doi: 10.1016/0887-8994(95)95022-u. [PMID: 7538304]
  • G T Besley, M Lendon, D M Broadhead, J Till, L E Heptinstall, B Phillips. Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria. Journal of inherited metabolic disease. 1995; 18(2):221-3. doi: 10.1007/bf00711772. [PMID: 7564252]
  • J W Hou, T R Wang. 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. Journal of inherited metabolic disease. 1995; 18(5):645-6. doi: 10.1007/bf02436015. [PMID: 8598651]
  • A al Aqeel, M Rashed, P T Ozand, J Brismar, G G Gascon, A al Odaib, O Dabbagh. 3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. Brain & development. 1994 Nov; 16 Suppl(?):23-32. doi: 10.1016/0387-7604(94)90093-0. [PMID: 7726378]
  • G G Gascon, P T Ozand, J Brismar. Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. Brain & development. 1994 Nov; 16 Suppl(?):94-103. doi: 10.1016/0387-7604(94)90102-3. [PMID: 7726387]
  • S Jooste, E Erasmus, L J Mienie, W J de Wet, K M Gibson. The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria. Clinica chimica acta; international journal of clinical chemistry. 1994 Oct; 230(1):1-8. doi: 10.1016/0009-8981(94)90083-3. [PMID: 7850987]
  • I Ostman-Smith, G Brown, A Johnson, J M Land. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. British heart journal. 1994 Oct; 72(4):349-53. doi: 10.1136/hrt.72.4.349. [PMID: 7833193]
  • J M Draaisma, I C van Kesteren, O Daniëls, R C Sengers. Dilated cardiomyopathy with 3-methylglutaconic aciduria. Pediatric cardiology. 1994 Mar; 15(2):89-90. doi: 10.1007/bf00817615. [PMID: 7997421]
  • O N Elpeleg, H Costeff, A Joseph, Y Shental, R Weitz, K M Gibson. 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. Developmental medicine and child neurology. 1994 Feb; 36(2):167-72. doi: 10.1111/j.1469-8749.1994.tb11825.x. [PMID: 7510656]
  • R I Kelley. Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clinica chimica acta; international journal of clinical chemistry. 1993 Nov; 220(2):157-64. doi: 10.1016/0009-8981(93)90044-5. [PMID: 8111960]
  • H Ibel, W Endres, H B Hadorn, T Deufel, I Paetzke, M Duran, N G Kennaway, K M Gibson. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. European journal of pediatrics. 1993 Aug; 152(8):665-70. doi: 10.1007/bf01955244. [PMID: 7691603]
  • U Lichter-Konecki, F K Trefz, A Rötig, A Munnich, A Pfeil, H J Bremer. 3-Methylglutaconic aciduria in a patient with Pearson syndrome. European journal of pediatrics. 1993 Apr; 152(4):378. doi: 10.1007/bf01956761. [PMID: 8482296]
  • K M Gibson, O N Elpeleg, C Jakobs, H Costeff, R I Kelley. Multiple syndromes of 3-methylglutaconic aciduria. Pediatric neurology. 1993 Mar; 9(2):120-3. doi: 10.1016/0887-8994(93)90046-f. [PMID: 8499040]
  • H Costeff, O Elpeleg, N Apter, P Divry, N Gadoth. 3-Methylglutaconic aciduria in 'optic atrophy plus'. Annals of neurology. 1993 Jan; 33(1):103-4. doi: 10.1002/ana.410330117. [PMID: 8494328]
  • E Holme, J Greter, C E Jacobson, N G Larsson, S Lindstedt, K O Nilsson, A Oldfors, M Tulinius. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatric research. 1992 Dec; 32(6):731-5. doi: 10.1203/00006450-199212000-00022. [PMID: 1287564]
  • K M Gibson, M J Bennett, C E Mize, C Jakobs, A Rotig, A Munnich, U Lichter-Konecki, F K Trefz. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. The Journal of pediatrics. 1992 Dec; 121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. [PMID: 1447663]
  • R N Sheffer, J Zlotogora, O N Elpeleg, J Raz, D Ben-Ezra. Behr's syndrome and 3-methylglutaconic aciduria. American journal of ophthalmology. 1992 Oct; 114(4):494-7. doi: 10.1016/s0002-9394(14)71864-1. [PMID: 1384336]
  • A Zeharia, O N Elpeleg, M Mukamel, R Weitz, R Ariel, M Mimouni. 3-Methylglutaconic aciduria: a new variant. Pediatrics. 1992 Jun; 89(6 Pt 1):1080-2. doi: . [PMID: 1594352]
  • T Kuhara, I Matsumoto, K Saiki, H Takabayashi, S Kuwabara. 3-Methylglutaconic aciduria in two adults. Clinica chimica acta; international journal of clinical chemistry. 1992 Apr; 207(1-2):151-3. doi: 10.1016/0009-8981(92)90159-n. [PMID: 1375542]
  • J A Bakkeren, R C Sengers, W Ruitenbeek, J M Trijbels. 3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism. European journal of pediatrics. 1992 Apr; 151(4):313. doi: 10.1007/bf02072242. [PMID: 1499591]
  • D Chitayat, J Chemke, K M Gibson, O A Mamer, J B Kronick, J J McGill, B Rosenblatt, L Sweetman, C R Scriver. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). Journal of inherited metabolic disease. 1992; 15(2):204-12. doi: 10.1007/bf01799632. [PMID: 1382150]
  • K M Gibson, C F Lee, R S Wappner. 3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case. Journal of inherited metabolic disease. 1992; 15(3):363-6. doi: 10.1007/bf02435977. [PMID: 1383605]
  • R I Kelley, J P Cheatham, B J Clark, M A Nigro, B R Powell, G W Sherwood, J T Sladky, W P Swisher. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. The Journal of pediatrics. 1991 Nov; 119(5):738-47. doi: 10.1016/s0022-3476(05)80289-6. [PMID: 1719174]
  • K M Gibson, W G Sherwood, G F Hoffman, D A Stumpf, I Dianzani, R B Schutgens, P G Barth, U Weismann, C Bachmann, P Schrynemackers-Pitance. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. The Journal of pediatrics. 1991 Jun; 118(6):885-90. doi: 10.1016/s0022-3476(05)82199-7. [PMID: 1710267]
  • G N Thompson, R A Chalmers, D Halliday. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. European journal of pediatrics. 1990 Feb; 149(5):346-50. doi: 10.1007/bf02171564. [PMID: 1690129]
  • O N Elpeleg, D Meiron, V Barash, Y Hurwitz, I Tal, N Amir. 3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. Journal of inherited metabolic disease. 1990; 13(2):235-6. doi: 10.1007/bf01799695. [PMID: 2116558]